A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 试验地点
- 2
- 主要终点
- Echocardiogram
研究概览
简要总结
Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects ~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy.
This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.
研究设计
- 研究类型
- Interventional
- 干预模型
- Factorial
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
研究组 & 干预措施
Healthy Volunteers (Controls)
干预措施: Echocardiography (ECHO) (Procedure)
Healthy Volunteers (Controls)
干预措施: Cardiac-related blood studies (Procedure)
Friedreich's Ataxia
干预措施: Cardiac magnetic resonance imaging (CMR) (Procedure)
Friedreich's Ataxia
干预措施: Exercise-stress test (Procedure)
Friedreich's Ataxia
干预措施: Echocardiography (ECHO) (Procedure)
Friedreich's Ataxia
干预措施: Cardiac-related blood studies (Procedure)
Healthy Volunteers (Controls)
干预措施: Cardiac magnetic resonance imaging (CMR) (Procedure)
Healthy Volunteers (Controls)
干预措施: Exercise-stress test (Procedure)
结局指标
主要结局
Echocardiogram
时间窗: 2 hours
Level of cardiac biomarkers in serum
时间窗: 30 minutes
Fatigue Severity Scale
时间窗: 30 minutes
Exercise-stress test
时间窗: 2 hours
Cardiac magnetic resonance imaging (CMR)
时间窗: 2 hours
次要结局
未报告次要终点